T9861C

# **General Information**

| **Position** | **9861** | **Variant** | **m.9861T\>C** | **Locus** | **MT\-CO3** | **Amino\-AcidChange** | **F219L** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Benign | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.9861T\>C** variant in MT\-CO3 has been reported in 2 pedigrees. To date, 2 carriers have been reported. Mutation\-load data were not available. The main clinical manifestations among affected carriers included alzheimer disease.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9861 | m.9861T\>C | T9861C\-F1 | USA | Alzheimer disease | ND | ND | 2006 | [16358358](https://pubmed.ncbi.nlm.nih.gov/16358358/) |  |
| 2 | 9861 | m.9861T\>C | T9861C\-F2 | USA | Alzheimer disease | ND | ND | 2006 | [16358358](https://pubmed.ncbi.nlm.nih.gov/16358358/) |  |

# **Carrier Information**

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 9861 | m.9861T\>C | T9861C\-F1 | T9861C\-F1\-P1 | Uninf | ND | ND | Y | D | ND | / | / | / | brain/parietal cortex ND | Alzheimer disease |  |
| 2 | 9861 | m.9861T\>C | T9861C\-F2 | T9861C\-F2\-P1 | Uninf | ND | ND | Y | D | ND | / | / | / | brain ND | Alzheimer disease |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).